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Mariah A Witt

University of Minnesota

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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.

2021 Molecular Genetics & Genomic Medicine
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Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.

2021 Frontiers in Genetics
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